Results 41 to 50 of about 1,595 (202)
Coexistence of Touraine-Solente-Gole syndrome and type 1 neurofibromatosis: A case report
Turkderm Turkish Archives of Dermatology and Venereology, 2021 Pachydermoperiostosis is a rare syndrome that affects the skin and skeletal system. Mutations in the gene encoding hydroxyprostaglandin dehydrogenase (HPGD) are thought to play a role in disease etiopathogenesis.
Selma Korkmaz +5 more
doaj +1 more source
Journal of Medical Case Reports, 2018 Background Primary hypertrophic osteoarthropathy also known as pachydermoperiostosis is a rare genetic disorder that has often been confused with acromegaly because of similar clinical features.
Yacoba Atiase +6 more
doaj +1 more source
A Rare Cause of Refractory Anaemia hidden between Folds
, 2023 British Journal of Haematology, Volume 202, Issue 4, Page 712-712, August 2023.
Syna Hamani +3 more
wiley +1 more source
Pachydermoperiostosis mimicking acromegaly: A case report
Indian Dermatology Online Journal, 2018 Pachydermoperiostosis is a rare, hereditary disease commonly presenting with digital clubbing, pachyderma, and periosteal hypertrophy. Coarsening of facial features and spade-like enlargement of hands and feet may give rise to a diagnostic dilemma ...
Prerna +3 more
doaj +1 more source
Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology [PDF]
, 2013 Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP
Bermúdez, Olga +10 more
core +2 more sources
5 Cases Analysis of Pachydermoperiostosis Complicated with Synovitis
罕见病研究, 2023 Objective To analyze the clinical characteristics, treatments and prognosis of pachydermoperiostosis (PDP) with synovitis, and to improve clinicians′ understanding of PDP. Methods The clinical data of 5 patients diagnosed with PDP in Peking Union Medical
LU Xin, YANG Bo, ZHANG Jianguo
doaj +1 more source
Reumatismo, 2014 Pachydermoperiostosis is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing)
S. El Aoud +4 more
doaj +1 more source
Hypertrophic osteopathy in a cat with a concurrent injection-site sarcoma. [PDF]
, 2015 Case summary An 11-year old neutered female domestic shorthair cat presented for investigation of a large, partially ulcerated skin mass in the area of the left scapula. The cat had been vaccinated 6 weeks previously in the same area.
Constantino-Casas, Fernando +3 more
core +2 more sources
Pachydermoperiostosis as a Rare Cause of Blepharoptosis
Türk Oftalmoloji Dergisi, 2014 A 37-year-old male patient diagnosed with pachydermoperiostosis at another center came to our clinic to rectify his blepharoptosis. The physical examination of the patient revealed skeleton and skin symptoms typical for pachydermoperiostosis.
Özlem Yalçın Tök +5 more
doaj +1 more source
Transgrediens pachydermodactyly: report of a case [PDF]
, 2009 Pachydermodactyly is a rare form of digital fibromatosis involving the proximal portions of the fingers that usually affects young males. We present a 25-year-old male patient with a twoyear history of asymptomatic nodules in the fingers.
Coeli, Flávia Regina +4 more
core +4 more sources